C0027831[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709009	NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)	NF1 (T32A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1709461	NM_001042492.3(NF1):c.341T>C (p.Leu114Pro)	NF1 (L114P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 185021	NM_001042492.3(NF1):c.499_502del (p.Cys167fs)	NF1 (C167fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +5 more	GPathogenic
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 547570	NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)	NF1 (W223R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488814	NM_001042492.3(NF1):c.731-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 547579	NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)	NF1 (S340fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 428998	NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	NF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1709740	NM_001042492.3(NF1):c.1131del (p.Ile377fs)	NF1 (I377fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 962619	NM_001042492.3(NF1):c.1185+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 219572	NM_001042492.3(NF1):c.1185+1G>A	NF1	Single nucleotide variant (splice donor variant)	Juvenile myelomonocytic leukemia +2 more	GPathogenic
Select item 428941	NM_001042492.3(NF1):c.1260+1604A>G	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 648469	NM_001042492.3(NF1):c.1527+2dup	NF1	Duplication (splice donor variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 346	NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	NF1 (Q514fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 547601	NM_001042492.3(NF1):c.1660C>T (p.Gln554Ter)	NF1 (Q554*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 485956	NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)	NF1 (L578P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 68306	NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)	NF1 (K583R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 68321	NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)	NF1 (L844F)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 185364	NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)	NF1 (S858C)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis +6 more	GConflicting classifications of pathogenicity
Select item 41670	NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	NF1 (T862S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1710067	NM_001042492.3(NF1):c.2650G>T (p.Glu884Ter)	NF1 (E884*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 363	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1 (M992del)	Deletion (inframe_deletion)	Café-au-lait macules with pulmonary stenosis +6 more	GPathogenic/Likely pathogenic
Select item 484129	NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)	NF1 (M1005T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 431619	NM_001042492.3(NF1):c.3113+2T>C	NF1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 231169	NM_001042492.3(NF1):c.3113+2T>G	NF1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1709958	NM_001042492.3(NF1):c.3250_3254del (p.Pro1084fs)	NF1 (P1084fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1709572	NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val)	NF1 (L1102V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 141451	NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	NF1 (V1146I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1709266	NM_001042492.3(NF1):c.3464C>A (p.Ala1155Asp)	NF1 (A1155D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 237556	NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	NF1 (R1276*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 428951	NM_001042492.3(NF1):c.3870+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 344	NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	NF1 (R1362*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 957853	NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)	NF1 (M1388R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 957201	NM_001042492.3(NF1):c.4280T>G (p.Leu1427Ter)	NF1 (L1406* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1709752	NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn)	NF1 (K1409N +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1430028	NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser)	NF1 (R1456S +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 825241	NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile)	NF1 (V1622I +1 more)	Indel (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 1709783	NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln)	NF1 (E1699Q +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 561680	NM_001042492.3(NF1):c.5269-14C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 228381	NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)	NF1 (R1748* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 1709418	NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly)	NF1 (V1773G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 457756	NM_001042492.3(NF1):c.5610-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 1454435	NM_001042492.3(NF1):c.5665G>T (p.Glu1889Ter)	NF1 (E1868* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1709719	NM_001042492.3(NF1):c.5693del (p.Leu1898fs)	NF1 (L1877fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457763	NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp)	NF1 (E1929D +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1709551	NM_001042492.3(NF1):c.5812+5_5812+8del	NF1	Microsatellite (splice donor variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1710012	NM_001042492.3(NF1):c.6516del (p.Ala2173fs)	NF1 (A2152fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 228382	NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)	NF1 (Y2264* +1 more)	Duplication	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 185082	NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	NF1 (Y2264* +1 more)	Single nucleotide variant (nonsense)	NF1-related condition +7 more	GPathogenic
Select item 1709181	NM_001042492.3(NF1):c.6912del (p.Asn2306fs)	NF1 (N2285fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 661667	NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)	NF1 (L2398fs +1 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 936484	NM_001042492.3(NF1):c.7281del (p.Asp2427fs)	NF1 (D2427fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic
Select item 1709686	NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu)	NF1 (Q2567E +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 184261	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1 (R2616* +1 more)	Single nucleotide variant (nonsense)	Tibial pseudarthrosis +8 more	GPathogenic/Likely pathogenic
Select item 1709402	NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala)	NF1 (T2729A +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance

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Items: 58